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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Leu1052Val

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
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Variant information Variant position: help 1052
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Valine (V) at position 1052 (L1052V, p.Leu1052Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In HSCR1.
Other resources: help


Sequence information Variant position: help 1052
Protein sequence length: help 1114
Location on the sequence: help GLSEEETPLVDCNNAPLPRA L PSTWIENKLYGMSDPNWPGE
Residue conservation: help 
Human                         GLSEEETPLVDCNNAPLPRALPSTWIENKLYGMSDPNWPGE

Mouse                         GLSEEETPLVDCNNAPLPRSLPSTWIENKLYGMSDPNWPGE

Rat                           GLSEEETPLVDCNSAPLPRSLPSTWIENKLYGMSDPNWPGE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 1114 Proto-oncogene tyrosine-protein kinase receptor Ret
Topological domain 658 – 1114 Cytoplasmic
Modified residue 1062 – 1062 Phosphotyrosine; by autocatalysis
Mutagenesis 708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.
Mutagenesis 1062 – 1062 Y -> F. Abolishes GFRAL-mediated MAPK1/MAPK2 phosphorylation.



Literature citations
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So M.T.; Leon T.Y.; Cheng G.; Tang C.S.; Miao X.P.; Cornes B.K.; Diem N.N.; Cui L.; Ngan E.S.; Lui V.C.; Wu X.Z.; Wang B.; Wang H.; Yuan Z.W.; Huang L.M.; Li L.; Xia H.; Zhu D.; Liu J.; Nguyen T.L.; Chan I.H.; Chung P.H.; Liu X.L.; Zhang R.; Wong K.K.; Sham P.C.; Cherny S.S.; Tam P.K.; Garcia-Barcelo M.M.;
PLoS ONE 6:E28986-E28986(2011)
Cited for: VARIANTS HSCR1 549-LYS-GLY-550 DEL; CYS-114; GLY-145; LEU-155; PRO-175; ALA-278; PRO-278; ASN-300; GLN-313; ILE-316; LEU-339; TYR-353; GLN-360; MET-397; MET-412; ARG-423; LYS-480; GLN-595; LEU-679; GLN-694; SER-783; ARG-830; THR-907; LEU-961; VAL-1052; CYS-1062 AND THR-1064; VARIANTS HIS-114; ASN-278 AND MET-292;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.